{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T06:05:10Z","timestamp":1785305110586,"version":"3.55.0"},"reference-count":21,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T00:00:00Z","timestamp":1785283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["K01NS126736-04."],"award-info":[{"award-number":["K01NS126736-04."]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Mol. Neurosci."],"abstract":"<jats:p>Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, resulting from CGG trinucleotide repeat expansion in the FMR1 gene and consequent absence of Fragile X Messenger Ribonucleoprotein (FMRP). Current management remains symptomatic, and adeno-associated virus (AAV)-mediated gene therapy represents a promising treatment and perhaps a curative avenue. However, community perspectives on gene therapy in FXS have not been assessed. FXS is a non-lethal neurodevelopmental condition with a normal life expectancy. Caregivers weighing gene therapy for a child with FXS must balance the potential benefits of FMRP restoration against the uncertainties and risks of an investigational gene therapy in the absence of life-threatening urgency. Whether and to what degree FXS caregivers are willing to consider gene therapy under these circumstances is therefore a meaningful and non-trivial question, and one that has not previously been examined. We report findings from two sequential cross-sectional surveys examining community and caregiver knowledge, attitudes, concerns, and information preferences regarding gene therapy for FXS. The initial survey (Survey One) was an 8-item online survey completed by 351 FXS community members. A follow-up survey (Survey Two) was a 26-item online, REDCap-based instrument completed by 56 parents\/caregivers recruited through clinics and the National Fragile X International Conference. Both surveys demonstrated strongly positive attitudes toward gene therapy: 94% of Survey One community members indicated they would consider gene therapy for FXS, while 84% of Survey Two caregivers agreed or strongly agreed they were hopeful about gene therapy success, and an equal 84% indicated they would consider gene therapy if available. The primary concern across both surveys was side effects and risks, followed by effectiveness, timeline, and cost. Improving quality of life was the leading motivator (69%), and intellectual and developmental disability was the symptom caregivers most wanted a future therapy to address (57%). Physicians, genetic counselors, and geneticists were identified as the preferred sources for gene therapy education. These findings reveal that surveyed caregivers express high motivation and broadly positive attitudes toward gene therapy, while highlighting specific educational needs that may inform informed consent processes and clinical trial design for future FXS gene therapy development. These results represent the perspectives of surveyed caregivers and may not generalize to the broader FXS community.<\/jats:p>","DOI":"10.3389\/fnmol.2026.1912516","type":"journal-article","created":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T05:57:56Z","timestamp":1785304676000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Knowledge, attitudes, and perspectives on gene therapy for Fragile X syndrome: results from two community and caregiver surveys"],"prefix":"10.3389","volume":"19","author":[{"given":"Vivian","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai","place":["New York, NY, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa","family":"Vomvos","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai","place":["New York, NY, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"De Sonia","sequence":"additional","affiliation":[{"name":"National Fragile X Foundation","place":["McLean, VA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilary","family":"Rosselot","sequence":"additional","affiliation":[{"name":"National Fragile X Foundation","place":["McLean, VA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reymundo","family":"Lozano","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai","place":["New York, NY, United States"]},{"name":"National Fragile X Foundation","place":["McLean, VA, United States"]},{"name":"Department of Pediatrics, Icahn School of Medicine at Mount Sinai","place":["New York, NY, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"505","DOI":"10.3390\/genes14020505","article-title":"Efficient delivery of FMR1 across the blood brain barrier using aavphp construct in adult fmr1 ko mice suggests the feasibility of gene therapy for fragile x syndrome.","volume":"14","author":"Chadman","year":"2023","journal-title":"Genes"},{"key":"B2","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13023-022-02576-3","article-title":"Understanding patient and parent\/caregiver perceptions on gene therapy in gaucher disease: An international survey.","volume":"18","author":"Collin-Histed","year":"2023","journal-title":"Orphanet. 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